A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10749212



Internal ID1372518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166648099..166928362hg38UCSC Ensembl
chr2:167504609..167784872hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38280264
hg19280264
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593257
Supporting Variants
SamplesHG01242
Known GenesXIRP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10749212
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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